{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401362596",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.685C>A (p.Arg229Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78079686C>A?assembly=hg19",
        "id": "chr17:g.78079686C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80105887C>A?assembly=hg38",
        "id": "chr17:g.80105887C>A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80105887-C-A?dataset=gnomad_r4",
        "id": "17-80105887-C-A",
        "variant": "17:80105887 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80105887,
          "referenceAllele": "C",
          "start": 80105886
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80105887C>A",
        "CM000679.2:g.80105887C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78079686,
          "referenceAllele": "C",
          "start": 78079685
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78079686C>A",
        "CM000679.1:g.78079686C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75694281,
          "referenceAllele": "C",
          "start": 75694280
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75694281C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9332,
          "referenceAllele": "C",
          "start": 9331
        }
      ],
      "hgvs": [
        "NG_009822.1:g.9332C>A",
        "LRG_673:g.9332C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000460543.2:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000459972.2:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000458306.2:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000305692.3:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.685C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.685C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Arg229Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Arg229Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000305692.3:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000374665.3:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Arg229Ser",
        "hgvsWellDefined": "ENSP00000460543.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.685C>A",
        "LRG_673t1:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Arg229Ser",
        "hgvsWellDefined": "NP_000143.2:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Arg229Ser",
        "hgvsWellDefined": "NP_001073271.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Arg229Ser",
        "hgvsWellDefined": "NP_001073272.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Arg229Ser",
        "hgvsWellDefined": "XP_005257250.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Arg229Ser",
        "hgvsWellDefined": "XP_005257251.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Arg229Ser",
        "hgvsWellDefined": "NP_000143.2:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Arg229Ser",
        "hgvsWellDefined": "NP_001073271.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "referenceAllele": "C",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Arg229Ser",
        "hgvsWellDefined": "NP_001073272.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Arg229Ser",
        "hgvsWellDefined": "XP_005257250.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Arg229Ser",
        "hgvsWellDefined": "XP_005257251.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Arg229Ser",
        "hgvsWellDefined": "NP_000143.2:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.685C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.685C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Arg229Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Arg229Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Arg229Ser",
        "hgvsWellDefined": "NP_001073271.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.685C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Arg229Ser",
        "hgvsWellDefined": "NP_001073272.1:p.Arg229Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}